Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms-Reference-Cited by-同舟云学术

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

Published:2006-02-22 Issue:5 Volume:14 Page:567-576
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Férec Claude,Casals Teresa,Chuzhanova Nadia,Macek Milan,Bienvenu Thierry,Holubova Andrea,King Caitriona,McDevitt Trudi,Castellani Carlo,Farrell Philip M,Sheridan Molly,Pantaleo Sarah-Jane,Loumi Ourida,Messaoud Taieb,Cuppens Harry,Torricelli Francesca,Cutting Garry R,Williamson Robert,Ramos Maria Jesus Alonso,Pignatti Pier Franco,Raguénès Odile,Cooper David N,Audrézet Marie-Pierre,Chen Jian-Min

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201590.pdf

Reference44 articles.

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2. Kerem B, Rommens JM, Buchanan JA et al: Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073–1080.

3. Bobadilla JL, Macek Jr M, Fine JP, Farrell PM : Cystic fibrosis: a worldwide analysis of CFTR mutations — correlation with incidence data and application to screening. Hum Mutat 2002; 19: 575–606.

4. Girodon-Boulandet E, Cazeneuve C, Goossens M : Screening practices for mutations in the CFTR gene ABCC7. Hum Mutat 2000; 15: 135–149.

5. Ferec C, Audrezet MP, Mercier B et al: Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1992; 1: 188–191.

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